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Epigenetic loss of the transfer RNA-modifying enzyme TYW2 induces ribosome frameshifts in colon cancer.
Rosselló-Tortella M, Llinàs-Arias P, Sakaguchi Y, Miyauchi K, Davalos V, Setien F, Calleja-Cervantes ME, Piñeyro D, Martínez-Gómez J, Guil S, Joshi R, Villanueva A, Suzuki T, Esteller M. Rosselló-Tortella M, et al. Among authors: joshi r. Proc Natl Acad Sci U S A. 2020 Aug 25;117(34):20785-20793. doi: 10.1073/pnas.2003358117. Epub 2020 Aug 10. Proc Natl Acad Sci U S A. 2020. PMID: 32778592 Free PMC article.
Use of DNA methylation profiling in translational oncology.
Ortiz-Barahona V, Joshi RS, Esteller M. Ortiz-Barahona V, et al. Semin Cancer Biol. 2022 Aug;83:523-535. doi: 10.1016/j.semcancer.2020.12.011. Epub 2020 Dec 19. Semin Cancer Biol. 2022. PMID: 33352265 Review.
Look-alike humans identified by facial recognition algorithms show genetic similarities.
Joshi RS, Rigau M, García-Prieto CA, Castro de Moura M, Piñeyro D, Moran S, Davalos V, Carrión P, Ferrando-Bernal M, Olalde I, Lalueza-Fox C, Navarro A, Fernández-Tena C, Aspandi D, Sukno FM, Binefa X, Valencia A, Esteller M. Joshi RS, et al. Cell Rep. 2022 Aug 23;40(8):111257. doi: 10.1016/j.celrep.2022.111257. Cell Rep. 2022. PMID: 36001980 Free article.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ. Joshi RS, et al. Am J Hum Genet. 2016 Sep 1;99(3):555-566. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569549 Free PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Among authors: joshi r. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
2,459 results